Variant report

Variant	rs4735539
Chromosome Location	chr8:99206298-99206299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:99206261-99206534	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99184801..99187794-chr8:99204671..99207468,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-914P	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10093356	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10093623	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10093678	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10093856	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10095790	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095887	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100633	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108460	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1109159	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11987536	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680980	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1542289	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16896763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896768	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896802	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2331809	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28485842	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2877460	0.96[ASN][1000 genomes]
rs2877495	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3779721	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734388	0.84[ASN][1000 genomes]
rs4734389	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734390	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735535	0.83[ASN][1000 genomes]
rs4735540	0.81[ASN][1000 genomes]
rs55908268	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56906975	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57644890	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60414868	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468620	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7009145	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72680644	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs896417	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99192200-99210600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:99192800-99210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99193400-99206400	Weak transcription	Pancreas	Pancrea
6	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
7	chr8:99197000-99209200	Weak transcription	HSMMtube	muscle
8	chr8:99197000-99210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:99197800-99215400	Weak transcription	Fetal Stomach	stomach
11	chr8:99198000-99210400	Weak transcription	Osteobl	bone
12	chr8:99198000-99217000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:99198200-99207200	Weak transcription	Esophagus	oesophagus
14	chr8:99198200-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:99198200-99239200	Weak transcription	Lung	lung
16	chr8:99201800-99214400	Weak transcription	Left Ventricle	heart
17	chr8:99202000-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:99202000-99215200	Weak transcription	NHDF-Ad	bronchial
19	chr8:99203600-99210600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:99204000-99214200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:99204400-99206800	Enhancers	K562	blood
23	chr8:99204600-99214800	Weak transcription	Gastric	stomach
24	chr8:99204800-99206600	Strong transcription	Ovary	ovary
25	chr8:99205000-99206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:99205200-99206400	Weak transcription	Right Atrium	heart
27	chr8:99205200-99207400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:99205200-99214400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:99205200-99214400	Weak transcription	Fetal Intestine Large	intestine
30	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:99205400-99214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:99205600-99207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:99205600-99214600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:99205600-99220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:99205800-99206600	Strong transcription	Fetal Intestine Small	intestine
36	chr8:99206200-99206400	ZNF genes & repeats	Aorta	Aorta

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